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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
SPN - Sialophorin
Alias:
LSN
CD43
GALGP
GPL115
LEU-22
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个高度唾液酸化的糖蛋白,在抗原特异性的T细胞激活中发挥作用,并在胸腺细胞、T淋巴细胞、单核细胞、粒细胞和部分B淋巴细胞的表面发现。它包含一个粘蛋白样的细胞外结构域、一个跨膜区域和一个羧基端胞内区域。细胞外结构域具有高比例的丝氨酸和苏氨酸残基,允许大量的O-糖基化,并具有一个潜在的N-糖基化位点,而羧基端区域具有潜在的磷酸化位点,可能调节激活信号的传导。已描述了该蛋白质的不同糖形。在刺激的免疫细胞中,一些细胞类型中的细胞外结构域发生蛋白水解切割,释放可溶性的细胞外片段。此基因表达缺陷与Wiskott-Aldrich综合征有关。[RefSeq,2017年9月提供]
Related ID:
NCBI:6693
ENSEMBL:ENSG00000197471
HGNC:11249
UNIPROT:P16150
OMIM:182160
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
6693
2
2
7914 bp
40.32
25
--
5
20
SPN Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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